Gene: GPHN

Alternate names for this Gene: GEPH|GPH|GPHRYN|HKPX1|MOCODC

Gene Summary: This gene encodes a neuronal assembly protein that anchors inhibitory neurotransmitter receptors to the postsynaptic cytoskeleton via high affinity binding to a receptor subunit domain and tubulin dimers. In nonneuronal tissues, the encoded protein is also required for molybdenum cofactor biosynthesis. Mutations in this gene may be associated with the neurological condition hyperplexia and also lead to molybdenum cofactor deficiency. Numerous alternatively spliced transcript variants encoding different isoforms have been described; however, the full-length nature of all transcript variants is not currently known.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.3-q24.1

Description of this Gene: gephyrin

Type of Gene: protein-coding

Gene: PLEK2

Alternate names for this Gene: -

Gene Summary: The protein encoded by this gene associates with membrane-bound phosphatidylinositols generated by phosphatidylinositol 3-kinase. The encoded protein then interacts with the actin cytoskeleton to induce cell spreading. In conjunction with complement component 1, q subcomponent, B chain (C1QB), this gene shows an increase in expression in melanoma cells and may serve as an accurate biomarker for the disease.

Gene is located in Chromosome: 14

Location in Chromosome : 14q23.3-q24.1

Description of this Gene: pleckstrin 2

Type of Gene: protein-coding

rs9323497 in GPHN;PLEK2 gene and Major Depressive Disorder PMID 30626913 2019 Bivariate genome-wide association analyses of the broad depression phenotype combined with major depressive disorder, bipolar disorder or schizophrenia reveal eight novel genetic loci for depression.